Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002535542 | SCV003713685 | uncertain significance | Inborn genetic diseases | 2022-05-26 | criteria provided, single submitter | clinical testing | The c.3032T>C (p.I1011T) alteration is located in exon 20 (coding exon 20) of the APOB gene. This alteration results from a T to C substitution at nucleotide position 3032, causing the isoleucine (I) at amino acid position 1011 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |